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Article

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.

Human molecular genetics - 1 Jun 1993

Watson C J, Gaunt L, Evans G, Patel K, Harris R, Strachan T

Abstract excerpt

RFLP typing of members of a neurofibromatosis type 2 (NF2) family suggested that affected individuals were hemizygous at the neurofilament heavy chain (NEFH) locus, possibly as a result of a disease-associated deletion. Conventional karyotyping revealed no evidence for a deletion and all or a majority of the affected family members were heterozygous for closely linked markers which mapped proximal to the NEFH...

Topics

Alleles
Child
Chromosome Mapping
Chromosomes, Human, Pair 22
Genes, Neurofibromatosis 2
Genetic Linkage
Genetic Markers
Growth Inhibitors
Humans
In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Interleukin-6

Leukemia Inhibitory Factor

Lymphokines

Neurofilament Proteins

Pedigree

Polymorphism, Restriction Fragment Length

Sarcoma, Ewing

Sequence Deletion

Source

Identifiers

PMID: 8102569
DOI: 10.1093/hmg/2.6.701

Genes

NEFH
LIF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8102569-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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